Gene Variant Detail

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Gene TET2
Variant P1889H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TET2 P1889H lies within the catalytic domain of the Tet2 protein (PMID: 28242787). P1889H has been identified in sequencing studies (PMID: 21828143), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Sep 2020).
Associated Drug Resistance

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Transcript NM_001127208.2
gDNA chr4:g.105276176C>A
cDNA c.5666C>A
Protein p.P1889H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127208 chr4:g.105276176C>A c.5666C>A p.P1889H RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.105276176C>A c.5666C>A p.P1889H RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105276176C>A c.5666C>A p.P1889H RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105276176C>A c.5666C>A p.P1889H RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.105276176C>A c.5666C>A p.P1889H RefSeq GRCh38/hg38
XM_005263082 chr4:g.105276176C>A c.5666C>A p.P1889H RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TET2 mutant angioimmunoblastic T-cell lymphoma not applicable N/A Guideline Diagnostic TET2 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org). detail...
TET2 mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In multiple clinical studies, including a meta-analysis, TET2 mutations were associated with shorter overall survival in patients with acute myeloid leukemia (PMID: 24524305, PMID: 25412851, PMID: 24994606). 24524305 25412851 24994606
TET2 mutant acute myeloid leukemia predicted - sensitive Azacitidine Phase I Actionable In a retrospective analysis, presence of a TET2 mutation correlated with higher overall response rate (ORR) in patients with myelodysplastic syndrome and acute myeloid leukemia following treatment with Vidaza (azacitidine), with an ORR of 85% (11/3) in TET2-mutated patients, compared to 47% (34/47) in patients with wild-type TET2, but did not correlate with overall survival (PMID: 21494260). 21494260
TET2 mutant myelofibrosis not applicable N/A Guideline Diagnostic TET2 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
TET2 P1889H unknown